Congenital Disorder of Glycosylation, Type Iig (CDG2G)

Alias:
Congenital Disorder of Glycosylation Type Iig
Cdg2g
Cdg Iig
Cdgiig
Carbohydrate Deficient Glycoprotein Syndrome Type Iig
Cdgii/cog1 Cerebrocostomandibular-Like Syndrome
Congenital Disorder of Glycosylation, Type 2g
Cdg-Iig
Glycosylation, Congenital Disorder of, Type Iig
Congenital Disorder of Glycosylation Type 2g
Cog1 Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2g
Cdg-Ii Caused by Cog1 Deficiency
Cdg Syndrome Type Iig
Cog1-Cdg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iig, also known as congenital disorder of glycosylation type iig, is related to cerebrocostomandibular syndrome and congenital disorder of glycosylation, type iiq. An important gene associated with Congenital Disorder of Glycosylation, Type Iig is COG1 (Component Of Oligomeric Golgi Complex 1), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include bone and brain, and related phenotypes are failure to thrive and short neck
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
9
34
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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